Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., Farwell, W., De Vivo, D. C., Endear Study Group :
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
N Engl J Med, 2017 ; 377 (18) : 1723-1732
Publications (1181)
Jacquier, A., Delorme, C., Belotti, E., Juntas-Morales, R., Sole, G., Dubourg, O., Giroux, M., Maurage, C. A., Castellani, V., Rebelo, A., Abrams, A., Zuchner, S., Stojkovic, T., Schaeffer, L., Latour, P. :
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death Acta Neuropathol Commun, 2017 ; 5 (1) : 55
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death Acta Neuropathol Commun, 2017 ; 5 (1) : 55
Brown, F. C., Collett, M., Tremblay, C. S., Rank, G., De Camilli, P., Booth, C. J., Bitoun, M., Robinson, P. J., Kile, B. T., Jane, S. M., Curtis, D. J. :
Loss of Dynamin 2 GTPase function results in microcytic anaemia Br J Haematol, 2017 ; 178 (4) : 616-628
Loss of Dynamin 2 GTPase function results in microcytic anaemia Br J Haematol, 2017 ; 178 (4) : 616-628
Stantzou, A., Ueberschlag-Pitiot, V., Thomasson, R., Furling, D., Bonnieu, A., Amthor, H., Ferry, A. :
Effect of constitutive inactivation of the myostatin gene on the gain in muscle strength during postnatal growth in two murine models Muscle Nerve, 2017 ; 55 (2) : 254-261
Effect of constitutive inactivation of the myostatin gene on the gain in muscle strength during postnatal growth in two murine models Muscle Nerve, 2017 ; 55 (2) : 254-261
Rzuczek, S. G., Colgan, L. A., Nakai, Y., Cameron, M. D., Furling, D., Yasuda, R., Disney, M. D. :
Precise small-molecule recognition of a toxic CUG RNA repeat expansion Nat Chem Biol, 2017 ; 13 (2) : 188-193
Precise small-molecule recognition of a toxic CUG RNA repeat expansion Nat Chem Biol, 2017 ; 13 (2) : 188-193
Roman, W., Martins, J. P., Carvalho, F. A., Voituriez, R., Abella, J. V. G., Santos, N. C., Cadot, B., Way, M., Gomes, E. R. :
Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle Nat Cell Biol, 2017 ; (SP) :
Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle Nat Cell Biol, 2017 ; (SP) :
Sicot, G., Servais, L., Dinca, D. M., Leroy, A., Prigogine, C., Medja, F., Braz, S. O., Huguet-Lachon, A., Chhuon, C., Nicole, A., Gueriba, N., Oliveira, R., Dan, B., Furling, D., Swanson, M. S., Guerrera, I. C., Cheron, G., Gourdon, G., Gomes-Pereira, M. :
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy Cell Rep, 2017 ; 19 (13) : 2718-2729
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy Cell Rep, 2017 ; 19 (13) : 2718-2729
Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. P., Mamchaoui, K., Blumen, S. C., St Guily, J. L., Mouly, V., Graham, M., Butler-Browne, G., Suhy, D. A., Trollet, C., Dickson, G. :
PABPN1 gene therapy for oculopharyngeal muscular dystrophy Nat Commun, 2017 ; 8 : 14848
PABPN1 gene therapy for oculopharyngeal muscular dystrophy Nat Commun, 2017 ; 8 : 14848
van Agtmaal, E. L., Andre, L. M., Willemse, M., Cumming, S. A., van Kessel, I. D., van den Broek, W. J., Gourdon, G., Furling, D., Mouly, V., Monckton, D. G., Wansink, D. G., Wieringa, B. :
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
CRISPR/Cas9-Induced (CTGCAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Mol Ther, 2017 ; 25 (1) : 24-43
Truffault, F., de Montpreville, V., Eymard, B., Sharshar, T., Le Panse, R., Berrih-Aknin, S. :
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review Clin Rev Allergy Immunol, 2017 ; 52 (1) : 108-124
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review Clin Rev Allergy Immunol, 2017 ; 52 (1) : 108-124
